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Gastroschisis: Causes, Diagnosis & Treatment

Gastroschisis is a congenital abdominal wall defect in which loops of intestine protrude through an opening beside the navel. It requires immediate surgical treatment after birth.

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Things worth knowing about "Gastroschisis"

Gastroschisis is a congenital abdominal wall defect in which loops of intestine protrude through an opening beside the navel. It requires immediate surgical treatment after birth.

What is Gastroschisis?

Gastroschisis is a congenital abdominal wall defect in which a small opening forms to the right of the navel during fetal development, allowing loops of intestine – and occasionally other abdominal organs such as the stomach or bladder – to protrude outside the body. Unlike the related condition omphalocele, the organs in gastroschisis are not covered by a protective membrane, meaning they are directly exposed to amniotic fluid throughout pregnancy. This exposure can cause inflammation and damage to the bowel wall.

Gastroschisis is one of the more common congenital abdominal wall defects, with an estimated incidence of approximately 1–5 cases per 10,000 live births. The incidence has been rising in several countries over recent decades.

Causes and Risk Factors

The exact cause of gastroschisis remains incompletely understood. It is believed that a disruption in the blood supply to the abdominal wall during early embryonic development (around weeks 4–8 of pregnancy) plays a key role. Identified risk factors include:

Young maternal age (particularly under 20 years)
Smoking during pregnancy
Use of alcohol or recreational drugs (e.g. aspirin, ibuprofen, pseudoephedrine, cocaine)
Low socioeconomic status
Poor nutritional status before and during pregnancy

In most cases, gastroschisis occurs sporadically and is not associated with chromosomal abnormalities, which distinguishes it from omphalocele and generally results in a more favorable prognosis.

Diagnosis

The diagnosis is typically made prenatally – before birth – using the following methods:

Ultrasound (sonography): From around 12–14 weeks of gestation, an experienced examiner can identify the abdominal wall defect and the protruding bowel loops. The diagnosis is most commonly made during routine prenatal ultrasound screening.
Fetal MRI: In uncertain cases, magnetic resonance imaging of the fetus may be used for more detailed assessment of the organs involved.
Alpha-fetoprotein (AFP): Elevated AFP levels in the maternal blood can be an indicator of an abdominal wall defect.

Once the diagnosis is confirmed, the pregnant woman is referred to a specialized perinatal center that works closely with a pediatric surgery team.

Symptoms and Clinical Presentation

At birth, the typical clinical picture is immediately apparent: loops of intestine protrude through a small opening, usually a few centimeters wide, located to the right of the umbilicus. The exposed organs may show the following changes:

Thickening and discoloration of the intestinal wall due to exposure to amniotic fluid (chemical peritonitis)
Adhesions between bowel loops
Short bowel syndrome in severe cases
Impaired bowel motility following surgery

Affected newborns are generally not associated with other organ malformations, which makes the overall prognosis more favorable compared to omphalocele.

Treatment

Immediate Management After Birth

Immediately after birth, the exposed organs must be covered with sterile, moist dressings to prevent dehydration, heat loss, and infection. The newborn is urgently transferred to a pediatric surgical center.

Surgical Treatment

The treatment of gastroschisis is exclusively surgical. Two main approaches are used:

Primary closure: When possible, all protruding organs are returned to the abdominal cavity and the defect is closed in a single surgical procedure. This is feasible when the defect is small and the organs are not severely damaged.
Staged repair (silo technique): For larger defects or significantly swollen bowel, a special plastic pouch called a “silo” is attached over the organs. The bowel is gradually reduced back into the abdominal cavity over several days until final closure can be performed.

Postoperative Care

Following surgery, affected infants typically require prolonged intensive care. Because the bowel may be damaged from prolonged amniotic fluid exposure, intestinal function is initially impaired. Infants initially receive parenteral nutrition (intravenous feeding) and are gradually transitioned to enteral (oral) feeding as bowel function recovers.

Prognosis

Thanks to advances in surgical techniques and neonatal intensive care, the prognosis for gastroschisis has improved significantly. Survival rates in specialized centers now exceed 90%. Long-term complications such as bowel obstruction, short bowel syndrome, or food intolerances are possible but uncommon in uncomplicated cases. Regular follow-up examinations remain essential for monitoring growth and gastrointestinal development.

References

Ledbetter DJ. Gastroschisis and omphalocele. Surgical Clinics of North America. 2006;86(2):249-260.
World Health Organization (WHO). Congenital anomalies. Fact Sheet. Geneva: WHO; 2023. Available at: https://www.who.int/news-room/fact-sheets/detail/congenital-anomalies
Prefumo F, Izzi C. Fetal abdominal wall defects. Best Practice & Research Clinical Obstetrics & Gynaecology. 2014;28(3):391-402.

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